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PubMed · 16956571

[Netherton syndrome].

Carlos Serra-Guillén·Antonio Torrelo·Marta Drake·Susana Armesto·Héctor Fernández-Llaca·Antonio Zambrano
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Abstract

Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome.

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Carrier ProteinsChildDermatitis, AtopicFemaleHairHumansIchthyosisMutationProteinase Inhibitory Proteins, SecretorySerine Peptidase Inhibitor Kazal-Type 5SyndromeCase ReportsJournal Article

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BibTeXRIS

Carlos Serra-Guillén, Antonio Torrelo, Marta Drake, Susana Armesto, Héctor Fernández-Llaca, Antonio Zambrano. 2006. [Netherton syndrome].. https://doi.org/10.1016/s0001-7310(06)73417-2

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